Association of beta-defensin 1 single nucleotide polymorphisms with Crohn's disease.
OBJECTIVE
It has been suggested that deficient defensin expression is associated with the chronic inflammation of Crohn's disease. The regional localization of Crohn's disease, ileal or colonic disease can be linked to different defensin profiles. As constitutive beta-defensin 1 has a colonic expression, we considered it of interest to investigate single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) in Crohn's disease.


METHODS
Three SNPs of the DEFB1 gene, DEFB1 G-20A (rs11362), DEFB1 C-44G (rs1800972) and DEFB1 G-52A (rs1799946), were genotyped either by Custom TaqMan SNP genotyping assays or by restriction fragment length polymorphisms (RFLP) in 190 patients with Crohn's disease and 95 Hungarian controls.


RESULTS
It was found that the G-20A and C-44G SNPs had a strong association with the colonic and ileocolonic localizations of the disease, respectively, but no association was detected for the ileal localization. A significantly higher frequency of the GA genotype of G-20A was observed among patients with colonic localization (60%) as compared with healthy controls (39%), with an odds ratio (OR) of 2.39. The GG genotype of C-44G SNP, which is regarded as a protective genotype, was much less frequent (4%) among patients than among controls (12%), OR 3.367.


CONCLUSIONS
These results indicate that genetic variations in the DEFB1 gene encoding constitutive human beta-defensin 1 may be associated with the risk for Crohn's disease and may determine disease phenotype, e.g. colonic localization.
Kocsis
Agnes Katalin
AK
Department of Medical Microbiology and Immunobiology, University of Szeged, Szeged, Hungary.
Lakatos
Peter Laszló
PL
Somogyvári
Ferenc
F
Fuszek
Peter
P
Papp
János
J
Fischer
Simon
S
Szamosi
Tamás
T
Lakatos
Laszlo
L
Kovacs
Agota
A
Hofner
Peter
P
Mándi
Yvette
Y
D000328:Adult; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D015810:Linkage Disequilibrium; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D023083:beta-Defensins / Q000235:genetics* / Q000378:metabolism
C406407:DEFB1 protein, human; D023083:beta-Defensins; D004247:DNA